HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease

Pediatr Diabetes. 2012 Mar;13(2):e1-5. doi: 10.1111/j.1399-5448.2011.00773.x. Epub 2011 Jul 19.


A small-for-gestational age female infant presented with bilateral hypoplastic kidneys at 3 months of age. She developed chronic renal insufficiency. Insulin-requiring, non-autoimmune diabetes was documented at 6 years of age. She had mild steatosis and iron deposition in the liver, and mal-development of pancreas. Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5). This is the first case of HNF1B-MODY reported from Turkey and represents a particularly severe phenotype of the disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Diabetes Mellitus, Type 1 / genetics*
  • Exocrine Pancreatic Insufficiency / genetics*
  • Female
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Humans
  • Hypoglycemic Agents
  • Infant
  • Infant, Newborn
  • Infant, Small for Gestational Age
  • Insulin / therapeutic use
  • Liver Diseases / genetics*
  • Liver Diseases / pathology
  • Molecular Sequence Data
  • Mutation*
  • Renal Insufficiency / genetics*
  • Severity of Illness Index
  • Turkey


  • HNF1B protein, human
  • Hypoglycemic Agents
  • Insulin
  • Hepatocyte Nuclear Factor 1-beta